Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 9-year-old girl who had massive bone marrow infiltration of tumor cells at the onset of alveolar rhabdomyosarcoma. She was admitted to a surgical hospital because of abdominal pain and tumor in the buttock. Computerized tomographic scans of the pelvis revealed an abnormal mass. She was referred to our department. Hematological examination showed pancytopenia. Blood chemistry revealed hypercalcemia and hyperuricemia. Bone marrow was occupied with 100% tumor cells. Chromosome analysis of tumor cells in bone marrow revealed a specific translocation, t(2;13) (q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma to be established. She was treated with vincristine, cyclophosphamide and epirubicin, achieved a complete remission, but died of relapse 3 months after diagnosis.
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PMID:[Alveolar rhabdomyosarcoma with massive bone marrow involvement and 2;13 chromosome translocation]. 163 76

We have examined the ability of blood-derived monocytes and macrophages isolated from a patient with alveolar rhabdomyosarcoma and hypercalcaemia, to form 24,25-dihydroxyvitamin D3 (24,25(OH)2D3) or 1 alpha,25-dihydroxyvitamin D3 (1 alpha,25(OH)2D3) from 25-hydroxyvitamin D3 (25(OH)D3). Adherent monocyte-macrophage cells incubated with 25(OH)D3 over the initial 2 days in culture synthesized 1.9 pmol 24,25(OH)2D3/h/incubation (representing 0.63 pmol/h/10(6) cells), whereas macrophages synthesized 1.03 and 1.15 pmol 1 alpha,25(OH)2D3/h/incubation after 1 and 4 weeks in culture respectively. In a further experiment synthesis of 1 alpha,25(OH)2D3 by long-term cultured macrophages fell from 2.25 to 0.04 pmol/h/incubation following exposure to 10 nM 1 alpha,25(OH)2D3 for 7 days, whereas 24,25(OH)2D3 synthesis was induced (0.46 pmol/h/incubation). The vitamin D3 metabolites were identified by co-chromatography with authentic 24,25(OH)2D3 or 1 alpha,25(OH)2D3 in three different high-performance liquid chromatography systems. Serum 1 alpha,25(OH)2D3 in the patient was markedly suppressed at 5 pg/ml (normal 20-50 pg/ml) indicating that raised 1 alpha,25(OH)2D3 was not the cause of the hypercalcaemia, but rather, that raised calcium may have suppressed renal 1 alpha,25(OH)2D3 synthesis. Administration of APD (3-amino-1-hydroxypropylidine-1,1-bisphosphonate) corrected the hypercalcaemia in the patient suggesting that increased bone resorption was responsible for the raised calcium. The results of this study show for the first time that immature blood derived monocyte-macrophage cells can synthesize 24,25(OH)2D3 before they mature into macrophages able to synthesize 1 alpha,25(OH)2D3.
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PMID:Metabolism of 25-hydroxyvitamin D3 to 24,25-dihydroxyvitamin D3 by blood derived macrophages from a patient with alveolar rhabdomyosarcoma during short-term culture and 1 alpha,25-dihydroxyvitamin D3 after long-term culture. 200 22

Hypercalcemia has not been reported as a complication of rhabdomyosarcoma in adults. We present the case of a 56-year-old man with pain in his right leg and hypercalcemia secondary to a large pelvic tumor. He had a rapidly progressive downhill course resulting in death due to tonsillar herniation. Although the results of special stains were negative, light microscopy showed poorly differentiated tumor, with features consistent with rhabdomyosarcoma. In children, hypercalcemia secondary to rhabdomyosarcoma is not uncommon and has been associated with bony metastasis, increased parathyroid hormone, and increased levels of prostaglandin E2.
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PMID:Rhabdomyosarcoma and hypercalcemia. 271 11

Hypercalcemia, often associated with certain types of adult tumors, has also been described in pediatric neoplasms. In childhood, the more common associations include lymphoma, leukemia, rhabdomyosarcoma and rarely neuroblastoma. However, recently, several infants with hypercalcemia were described having renal tumors without bone metastases. The following is a case report of a 2-month-old infant who presented with severe hypercalcemia and a large right-sided abdominal mass, which at surgery was diagnosed as a cellular mesoblastic nephroma.
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PMID:Hypercalcemia in association with mesoblastic nephroma: report of a case and review of the literature. 302 25

Rhabdomyosarcoma and other small round-cell neoplasms of infancy and childhood frequently involve the bone marrow. An unusual clinical presentation of diffuse bone marrow involvement as the sole manifestation of the disease represents a difficult diagnostic challenge. We report the case of an 18-year-old boy presenting with lower back pain, sternum tenderness, anemia, thrombocytopenia, leukoerythroblastic blood film, hypercalcemia, and renal failure. No solid tumor was found. A diagnosis of rhabdomyoblastic bone marrow metastatic involvement was initially suggested by the morphological picture, and later confirmed by the ultrastructural findings. Hypercalcemia and renal failure were controlled, initially, with furosemide and calcitonin. The patient was treated with intensive chemotherapy, including vincristine, actinomycin D, cyclophosphamide, and doxorubicin. A remission was achieved, lasting 5 months until relapse.
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PMID:Rhabdomyosarcoma presenting with diffuse bone marrow involvement, hypercalcemia and renal failure. 335 35

Unusual clinical, radiologic, or histologic findings were found in 11 of 17 cases of hypercalcemia associated with childhood tumors. Four children had undifferentiated lymphoblastic lymphoma with extensive bone involvement, but no visceral or neurologic involvement. At diagnosis, four adolescents with rhabdomyosarcoma had numerous metastases, particularly in the breasts and bone marrow. Three infants had renal tumor without bone metastases. Histologically, their tumors differed from classical nephroblastoma and resembled the malignant rhabdoid tumors of the kidney. These findings allow individualization of three distinct groups of tumors with unusual features which may suggest the presence of hypercalcemia. These tumors appear to have a poor prognosis since all patients but one died of their malignancy.
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PMID:Hypercalcemia preferentially occurs in unusual forms of childhood non-Hodgkin's lymphoma, rhabdomyosarcoma, and Wilms' tumor. A study of 11 cases. 609 59

Rhabdomyosarcoma presenting as a systemic disease is rare. This report concerns a 12-year-old girl who came to medical attention for what was thought to be a hematologic malignancy. Diffuse lytic bone lesions and large primitive cells in the bone marrow exhibiting erythrophagocytosis supported this diagnosis. During the course of the disease, a soft tissue mass in the region of the left ankle was removed and was a typical alveolar rhabdomyosarcoma. Retrospective review of the marrow, including electron microscopy, demonstrated that the primitive marrow cells were probably rhabdomyoblasts as well. The clinical course was a rapid downhill one in which lytic bone lesions and hypercalcemia were prominent. Although rhabdomyosarcoma eventually may disseminate, initial widespread disease without a clinically apparent primary can be a diagnostic dilemma. This clinical presentation, in combination with the recognized aggressiveness of the alveolar histologic subtype, identifies a rare subgroup of patients with rapidly fatal disease.
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PMID:Systemic rhabdomyosarcoma with diffuse bone marrow involvement. Case report of an unusual presentation. 646 2

Pseudohyperparathyroidism to sarcomas is very rare. A 16-year-old boy had a rhabdomyosarcoma and severe hypercalcemia associated with an elevated serum parathyroid hormone (PTH) level and osteolytic bone metastases. The four parathyroid glands were normal. Both the hypercalcemia and the serum PTH level responded to chemotherapy.
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PMID:Hypercalcemia and elevated serum parathyroid hormone level in association with rhabdomyosarcoma. 654 22

Hypercalcemia in nude mice with a rhabdomyosarcoma transplanted from a hypercalcemic patient is reported. The tumor had been transplanted to nude mice from a 15-year-old girl with hypercalcemia which appeared as the rhabdomyosarcoma developed and metastasized to the peritoneal and pleural cavities. The tumor was successfully transplanted to nude mice, which presented an elevated serum calcium level. No remarkable elevation of serum parathyroid hormone or 1 alpha, 25-dihydroxyvitamin D was found in the mouse with rhabdomyosarcoma. Injection of indomethacin restored the elevated serum calcium level to the normal range. The prostaglandin E2 level was approximately 15 times higher in the tumor-bearing mouse serum than in the control mouse serum. These data indicate that hypercalcemia in this patient can be ascribed to prostaglandin E2 produced by the rhabdomyosarcoma.
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PMID:Rhabdomyosarcoma-induced hypercalcemia in a nude mouse. 695 56

Parathyroid hormone-related peptide (PTHrP) is thought to be responsible for hypercalcemia in some patients with malignant tumors. The PTHrP gene has seven exons, giving rise to three types of PTHrP isoform through alternative splicing. We studied the expression of mRNAs in 14 human cell lines using the reverse transcription-PCR method, to examine tissue-specific expression. All the cell lines expressed at least two types of PTHrP transcript. Most cell lines expressed all four types of PTHrP mRNA isoform. However, a rhabdomyosarcoma cell line, RD, and a bladder carcinoma cell line, T24, expressed only two types. These results may suggest that PTHrP mRNA is expressed in the majority of tumor and normal tissues and that it shows less tissue- or tumor-specificity.
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PMID:Multiple alternative splice isoforms of parathyroid hormone-related peptide mRNA in human cell lines. 874 30


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